A Rare Case of Aplasia Cutis Congenita: Type 6

Background Aplasia Cutis Congenita (ACC) is a rare genetic disorder characterized by restricted or widespread, complete or partial absence or scarcity of skin at birth. The lesions may occur on each surface of body, although localized scalp lesions are the most frequent pattern (70%). ACC can occur as an isolated defect or can be associated with several other congenital anomalies such as limb anomalies or embryologic malformations. ACC Type 6 which involves trunk and extremities in association with epidermolysis bullosa is extremely rare. We describe a neonate with this rare disease who have multiple other systemic anomalies.

Case History We report a preterm male neonate who was born as the first child of consanguineous parents. Post-natal physical examination revealed findings of respiratory distress syndrome including peripheral cyanosis, flaring of nostrils, Grunting sounds and retractions. Bilateral symmetric aplastic areas on the neck and front-lateral face were noted. Upper and lower extremities of the child were covered by symmetrical, sharply demarcated multiple aplastic skin lesions that were extending to palms and soles with no overlying redundant bullae. The lesions were covered red translucent membrane, and vascular structures were easily seen. Moreover, the patient had bilateral microtia and a hypoplastic nasal bone. Multiple blisters on the mucous membranes of mouth were noted. The antenatal record included history of bilateral hydronephrosis and oligohydramnios.

Patient’s respiration was supported with positive pressure ventilation, and antimicrobial treatment was commenced. The wounds were treated by applying basitracin and neomisin with wet gauze dressing. Although a urine catheter was inserted, no urine output was seen. Abdominal USG demonstrated renal ectasia. Patient showed cardiovascular instability for which vasopressor and inotropic treatment were started. On the second day, the patient developed blisters on the upper extremities that were consistent with epidermolysis bullosa in histopathological examination. Unfortunately, despite aggressive supportive management, the baby died on day 3 due to respiratory failure.

Conclusion ACC is a rare congenital skin disorder with a unique clinical presentation. Along with skin defects of the patient, investigating on associated anomalies and considering a multisystem approach are important.